Gauchers Disease is a rare and serious inherited metabolic disorder that causes too much of the body’s waste product to build up in essential organs the spleen, liver, lungs, bones and in type 2 and type 3 this progressive disease affects the nervous system. The buildup prevents these organs from working properly.

Gaucher  - more detail

Gaucher (pronounced ‘go-shay’) is a serious inherited, metabolic disorder which results in the deficiency of an enzyme preventing the cells and organs functioning properly. Harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and sometimes in the brain. There are three types of Gaucher disease. Our funding effort is focused on third category, called type 3 were there is a slow, progressive deterioration of the nervous system and typically ssigns of neurological involvement such as seizures gradually become apparent.

Is there any treatment? 

Enzyme replacement therapy (cerezyme) helps those patients with type 3 Gaucher disease although it doesn’t slow down the progressive deterioration of the nervous system. This therapy does however decrease liver and spleen size, reduces skeletal anomalies, and successfully reverses other symptoms of the disorder, including abnormal blood counts. There is no effective treatment for severe brain damage that may occur in patients with types 2 and 3 Gaucher disease.

 A personal story – Mia (my niece & Callum’s cousin)

Mia has type 3 Gauchers disease and suffers like many other type 3 patients with fine & gross motor skill delay, auditory processing disorder, unusual eye movements and poor balance.  

 Mia was diagnosed in Dec 2000 just after her 1^st birthday.  She choked frequently from 9 months but the first thing her parents picked up was her eye movements. She has quite classic neurological symptoms. Although she no longer has choking problems – she has no horizontal saccades (that is, she can’t make horizontal movements with her eyes) She is ataxic, has impaired gross and fine motor skills and auditory processing issues. It took the family a long time to get over the shock and of course as a parent they are always coming to terms with the impact Gauchers has on their child.

Mia is now 9yrs old and attends her local village primary school. She has a full statement of educational needs. This is because she has poor balance, problems walking, gripping and controlling a pencil which affects her writing and drawing.  She needs more time to understand instructions and new concepts especially in math’s. She also has issues with spatial awareness. 

Mia requires specialist equipment at school including a sloping desk to help steady her hand (she has a tremor) and a saddle seat to aid her posture as she appears to have developed a postural kyphosis. Her learning support assistant sits beside Mia reinforcing  instructions in her maths lesson and also assisting her in P.E. She’s very well cared for in her school and it is imperative that she has 1 to 1 support in terms of safety and understanding the curriculum. Mia has also been taking Cerezyme now for 9yrs and has just completed 6yrs on the Zavesca drug trial. It is for these drugs and to fund further research into this desease that we are raising funds and completing the Vietnam to Cambodia challenge.